Hb Mulhacen | alpha123(H6)Ala->Ser |
---|
CONTACT | alpha1beta1 contact | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | A fast-moving variant, focusing like Hb A1c | ||
CHROMATOGRAPHY | No clear separation of Hb X and Hb A was observed by cation exchange HPLC | ||
STRUCTURE STUDIES | Not reported; identification by sequencing of amplified DNA | ||
DNA ANALYSES | A GCC->TCC mutation at codon 123 of the alpha1 gene (an additional GCG->GCT polymorphism at codon 120) | ||
FUNCTIONAL STUDIES | Not reported | ||
STABILITY | Stable | ||
OCCURRENCE | Found in an adult Spanish male | ||
OTHER INFORMATION | Quantity in the heterozygote perhaps 13-14% |
REFERENCES | |||
1. | Kazanetz, E.G., Leonova, J.Ye., Wilson, J.B., McMillan, S.K., Walbrecht, M., de Pablos Gallego, J.Ma., and Huisman, T.H.J.: Hemoglobin, 19:1, 1995. |